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Mutation Analysis of TSC Gene in Tuberous Sclerosis Complex Patient-Case Report
Chiu-Yen Ho , Kuo-Chia Yang , Ming Chen , Shun-Ping Chang
Dermatol Sinica 25: 265-273, 2007

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two thirds of cases are sporadic and are thought to represent new mutations. TSC is caused by mutations affecting either of the presumed tumor-suppressor genes, TSC1 and TSC2. Both appear to function as tumor suppressors, because somatic loss or intragenic mutation of the corresponding wild-type allele is seen in the associated hamartomas. We found a 47 year-old female patient suffered from tuberous sclerosis. One new mutational gene (M286V) was recognized on TSC2 exon 9 after PCR sequencing from the tissue of the patient. So we report the missense mutational gene (M286V) as possible caustic gene of tuberous sclerosis.

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